Canonical Allele Identifier: CA381611813

Gene: LRP5

Linked Data

• dbSNP Id: rs1399963722
• gnomAD v2: 11-68125207-A-T
• gnomAD v4: 11-68357739-A-T
• MyVariant Identifiers: chr11:g.68125207A>T (hg19) ; chr11:g.68357739A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68357739A>T , CM000673.2:g.68357739A>T	GRCh38
NC_000011.9:g.68125207A>T , CM000673.1:g.68125207A>T	GRCh37
NC_000011.8:g.67881783A>T	NCBI36
NG_015835.1:g.50100A>T
NG_015835.2:g.50100A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.578A>T MANE Select	ENSP00000294304.6:p.Asp193Val
ENST00000294304.11:c.578A>T	ENSP00000294304.6:p.Asp193Val
ENST00000529993.5:c.578A>T	ENSP00000436652.1:p.Asp193Val
NM_001291902.1:c.-1188A>T	NP_001278831.1:n.-1188A>T
NM_002335.3:c.578A>T	NP_002326.2:p.Asp193Val
XM_005273994.2:c.578A>T	XP_005274051.1:p.Asp193Val
XM_011545029.1:c.605A>T	XP_011543331.1:p.Asp202Val
XM_011545030.1:c.605A>T	XP_011543332.1:p.Asp202Val
XM_011545031.1:c.605A>T	XP_011543333.1:p.Asp202Val
XR_949925.1:n.620A>T
XR_949926.1:n.620A>T
XR_001747874.1:n.620A>T
XR_949925.2:n.620A>T
XR_949926.2:n.620A>T
NM_002335.4:c.578A>T MANE Select	NP_002326.2:p.Asp193Val
NM_001291902.2:c.-1188A>T	NP_001278831.1:n.-1188A>T